Next Generation Sequencing Ngs For Rare Diseases Diagnosis
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Next Generation Sequencing Ngs For Rare Diseases Diagnosis
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Author : Xiu-An Yang
language : en
Publisher: Frontiers Media SA
Release Date : 2022-01-28
Next Generation Sequencing Ngs For Rare Diseases Diagnosis written by Xiu-An Yang and has been published by Frontiers Media SA this book supported file pdf, txt, epub, kindle and other format this book has been release on 2022-01-28 with Science categories.
Next Generation Sequencing Ngs For Rare Diseases Diagnosis Volume Ii
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Author : Xiu-An Yang
language : en
Publisher: Frontiers Media SA
Release Date : 2023-07-31
Next Generation Sequencing Ngs For Rare Diseases Diagnosis Volume Ii written by Xiu-An Yang and has been published by Frontiers Media SA this book supported file pdf, txt, epub, kindle and other format this book has been release on 2023-07-31 with Science categories.
Applying Next Generation Sequencing And Transgenic Models To Rare Disease Research
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Author : Arvin M. Gouw
language : en
Publisher: Frontiers Media SA
Release Date : 2020-03-03
Applying Next Generation Sequencing And Transgenic Models To Rare Disease Research written by Arvin M. Gouw and has been published by Frontiers Media SA this book supported file pdf, txt, epub, kindle and other format this book has been release on 2020-03-03 with categories.
A rare disease is a disease that occurs infrequently in the general population, typically affecting fewer than 200,000 Americans at any given time. More than 30 million people in the United States of America (USA) and 350 million people globally suffer from rare diseases. Out of the 7000+ known rare diseases, less than 5% have approved treatments. Rare diseases are frequently chronic, progressive, degenerative, and life-threatening, compromising the lives of patients by loss of autonomy. In the USA, it can take years for a rare disease patient to receive a correct diagnosis. The socioeconomic burden for rare disease is huge. For those living with diagnosed rare diseases, there is no support system or resource bank for navigating financial, educational, or other aspects of having a rare disease. The purpose of this Research Topic is to bring together leading researchers, non-profit organizations, healthcare providers/diagnostic companies, and pharma/biotech/CROs in the field to provide a broad perspective on the latest advances, challenges, and opportunities in rare disease research. A genomic approach to rare disease research is becoming the key to discovering unknown causes behind these syndromes. Genomic rare disease research has attracted not only academic researchers but also researchers from the biotech/pharma and non-profit organizations. The breadth and depth of current genomic approaches in rare disease is largely unexplored. While the creation of novel CRISPR mouse models and the use of NGS (ChIP Seq, RNA Seq, etc) have become more routine for fields such as oncology, rare disease researchers are now making advances in modifying and applying these approaches for rare diseases. This Research Topic provides a fruitful platform for rare disease researchers to share their findings and advance the field of genomics research in the rare disease space.
Clinical Applications For Next Generation Sequencing
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Author : Urszula Demkow
language : en
Publisher: Academic Press
Release Date : 2015-09-10
Clinical Applications For Next Generation Sequencing written by Urszula Demkow and has been published by Academic Press this book supported file pdf, txt, epub, kindle and other format this book has been release on 2015-09-10 with Science categories.
Clinical Applications for Next Generation Sequencing provides readers with an outstanding postgraduate resource to learn about the translational use of NGS in clinical environments. Rooted in both medical genetics and clinical medicine, the book fills the gap between state-of-the-art technology and evidence-based practice, providing an educational opportunity for users to advance patient care by transferring NGS to the needs of real-world patients. The book builds an interface between genetic laboratory staff and clinical health workers to not only improve communication, but also strengthen cooperation. Users will find valuable tactics they can use to build a systematic framework for understanding the role of NGS testing in both common and rare diseases and conditions, from prenatal care, like chromosomal abnormalities, up to advanced age problems like dementia. Fills the gap between state-of-the-art technology and evidence-based practice Provides an educational opportunity which advances patient care through the transfer of NGS to real-world patient assessment Promotes a practical tool that clinicians can apply directly to patient care Includes a systematic framework for understanding the role of NGS testing in many common and rare diseases Presents evidence regarding the important role of NGS in current diagnostic strategies
Ngs Technologies Of Rare Diseases Diagnosis
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Author : María L. Couce
language : en
Publisher: Frontiers Media SA
Release Date : 2022-12-05
Ngs Technologies Of Rare Diseases Diagnosis written by María L. Couce and has been published by Frontiers Media SA this book supported file pdf, txt, epub, kindle and other format this book has been release on 2022-12-05 with Science categories.
Genetic Testing For Rare Diseases
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Author : José Millán
language : en
Publisher:
Release Date : 2022
Genetic Testing For Rare Diseases written by José Millán and has been published by this book supported file pdf, txt, epub, kindle and other format this book has been release on 2022 with categories.
Rare diseases, or orphan diseases, are those that individually affect a small number of patients, but taken together affect over 300 million people worldwide. They are characterized by their etiological, diagnostic and evolutionary complexity, important morbi-mortality, with high levels of disability that entail and hinder the development of a normal vital subject, not only in those who suffer from them, but also their families; therefore, a comprehensive social health approach is necessary to address this problem.About 80% of rare diseases have a genetic origin, mainly monogenic; thus, genetic testing is mandatory for the confirmation of clinical diagnostics and to ensure correct genetic counseling. Next-generation sequencing (NGS) has enabled a revolution in genetic diseases, specially in rare diseases. However, their complexity makes diagnoses difficult even with the advent of NGS.In this Special Issue, we present several examples of the complexity of genetic diagnosis for most of these diseases and the consequences that genetic testing implies for genetic counseling. There are examples of the genetic heterogeneity of hearing loss, some metabolic and lisosomal disorders, ataxia, Prader-Willi syndrome, and three comprehensive reviews on syndromic retinal dystrophies, the complexity of the molecular diagnosis of neuromuscular disorders, and the value of genetic counseling before and after a genetic test.
Next Generation Sequencing Technologies In Medical Genetics
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Author : C. Alexander Valencia
language : en
Publisher: Springer Science & Business Media
Release Date : 2013-10-16
Next Generation Sequencing Technologies In Medical Genetics written by C. Alexander Valencia and has been published by Springer Science & Business Media this book supported file pdf, txt, epub, kindle and other format this book has been release on 2013-10-16 with Medical categories.
This book introduces readers to Next Generation Sequencing applications in medical genetics. The authors discuss the direct application of next-generation sequencing to medicine, specifically, laboratory medicine or molecular diagnostics. The first part of the book contains chapters on sanger sequencing, NGS technologies, targeted-amplification and capture, and exome sequencing. The second part of the book focuses on genetic disorders diagnoses by NGS, prenatal diagnosis, muscular dystrophies, mitochondrial disorders diagnosis, and challenges in molecular diagnosis. Recent developments and potential future trends in NGS sequencing applications are highlighted, as well.
Advancing Genomics For Rare Disease Diagnosis And Therapy Development
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Author : Zhichao Liu
language : en
Publisher: Frontiers Media SA
Release Date : 2020-12-08
Advancing Genomics For Rare Disease Diagnosis And Therapy Development written by Zhichao Liu and has been published by Frontiers Media SA this book supported file pdf, txt, epub, kindle and other format this book has been release on 2020-12-08 with Science categories.
This eBook is a collection of articles from a Frontiers Research Topic. Frontiers Research Topics are very popular trademarks of the Frontiers Journals Series: they are collections of at least ten articles, all centered on a particular subject. With their unique mix of varied contributions from Original Research to Review Articles, Frontiers Research Topics unify the most influential researchers, the latest key findings and historical advances in a hot research area! Find out more on how to host your own Frontiers Research Topic or contribute to one as an author by contacting the Frontiers Editorial Office: frontiersin.org/about/contact.
Next Generation Sequencing Based Clinical Molecular Diagnosis Of Human Genetic Disorders
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Author : Lee-Jun C. Wong
language : en
Publisher: Springer
Release Date : 2017-05-15
Next Generation Sequencing Based Clinical Molecular Diagnosis Of Human Genetic Disorders written by Lee-Jun C. Wong and has been published by Springer this book supported file pdf, txt, epub, kindle and other format this book has been release on 2017-05-15 with Science categories.
Next Generation Sequencing technology has been applied to clinical diagnoses in the past three to five years using various approaches, including target gene panels and whole exomes. The purpose of this book is to summarize the experiences, the results, advantages and disadvantages, along with future development in the area of NGS-based molecular diagnosis. This up-to-date volume will not only provide the readers working with Next Generation Sequencing the basics on how to apply the technology to molecular diagnosis, but will present the results and experience of practical application.
Next Generation Sequencing
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Author : Lee-Jun C. Wong
language : en
Publisher: Springer Science & Business Media
Release Date : 2013-05-31
Next Generation Sequencing written by Lee-Jun C. Wong and has been published by Springer Science & Business Media this book supported file pdf, txt, epub, kindle and other format this book has been release on 2013-05-31 with Medical categories.
In recent years, owing to the fast development of a variety of sequencing technologies in the post human genome project era, sequencing analysis of a group of target genes, entire protein coding regions of the human genome, and the whole human genome has become a reality. Next Generation Sequencing (NGS) or Massively Parallel Sequencing (MPS) technologies offers a way to screen for mutations in many different genes in a cost and time efficient manner by deep coverage of the target sequences. This novel technology has now been applied to clinical diagnosis of Mendelian disorders of well characterized or undefined diseases, discovery of new disease genes, noninvasive prenatal diagnosis using maternal blood, and population based carrier testing of severe autosomal recessive disorders. This book covers topics of these applications, including potential limitations and expanded application in the future.